학술논문
'학술논문'
에서 검색결과 77건 | 목록
20~30
Academic Journal
Cockerell, Ine; Guenin, Michel; Heimdal, Ketil; Bjørnvold, Marit; Selmer, Kaja K.; Rouvière, Olivier
Academic Journal
Rydning, Siri L.; Backe, Paul H.; Sousa, Mirta M. L.; Iqbal, Zafar; Øye, Ane-Marte; Ying Sheng; Mingyi Yang; Xiaolin Lin; Slupphaug, Geir; Nordenmark, Tonje H.; Vigeland, Magnus D.; Bjørås, Magnar; Tallaksen, Chantal M.; Selmer, Kaja K.
Human Molecular Genetics; 3/15/2017, Vol. 26 Issue 6, p1031-1040, 10p
Academic Journal
Lund, Caroline; Striano, Pasquale; Sorte, Hanne Sørmo; Parisi, Pasquale; Iacomino, Michele; Ying Sheng; Vigeland, Magnus D.; Øye, Anne-Marte; Møller, Rikke Steensbjerre; Selmer, Kaja K.; Zara, Federico
Molecular Syndromology; Sep2016, Vol. 7 Issue 4, p234-238, 5p
Academic Journal
Shakeshaft, Amy; Panjwani, Naim; McDowall, Robert; Crudgington, Holly; Ceballos, Javier Pena; Andrade, Danielle M.; Beier, Christoph P.; Fong, Choong Yi; Gesche, Joanna; Greenberg, David A.; Hamandi, Khalid; Koht, Jeanette; Lim, Kheng Seang; Orsini, Alessandro; Rees, Mark, I; Rubboli, Guido; Selmer, Kaja K.; Smith, Anna B.; Striano, Pasquale; Syvertsen, Marte; Talvik, Inga; Thomas, Rhys H.; Zarubova, Jana; Richardson, Mark P.; Strug, Lisa J.; Pal, Deb K.; BIOJUME Consortium
Academic Journal
Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clemantine; Rabionet, Raquel; Blanco-Sanchez, Bernardo; Yang, Sandra; Reijnders, Margot R. F.; van Essen, Antonie J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coeslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M.; Heeley, Jennifer; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Walker, Melissa A.; Keegan, Catherine E.; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S.; Earl, Dawn L.; Siu, Victoria M.; Reesor, Emma; Yao, Tony; Hegele, Robert A.; Vaske, Olena M.; Rego, Shannon; Shapiro, Kevin A.; Wong, Brian; Gambello, Michael J.; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O'Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y.; Christodoulou, John; White, Susan M.; Slavotinek, Anne; Barbouth, Deborah; Swols, Dayna Morel; Parisot, Melanie; Bole-Feysot, Christine; Nitschke, Patrick; Pingault, Veronique; Munnich, Arnold; Cho, Megan T.; Cormier-Daire, Valerie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T.; Undiagnosed Dis Network; Care4Rare Canada Consortium
Academic Journal
Academic Journal
Gilfillan, Grogror D.; Selmer, Kaja K.; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Marten; Eiklid, Kristin; Kroken, Mette; Mattingsdal, Morten; Egeland, Thore; Sjoholm, Hans; Stenmark, Harald; Server, Andres; Samuelsson, Lena; Christianson, Arnold; Tarpey, Patrick; Whibley, Annabel; Stratton, Michael R.; Futreal, P. Andrew; Teague, Jon; Edkins, Sarah; Gecz, Jozef; Turner, Gillian; Raymond, E. Lucy; Schwartz, Charles; Stevenson, Roger E.; Undlien, Dag E.; Stromme, Petter
American Journal of Human Genetics. April 2008, Vol. 82 Issue 4, p1003, 8 p.
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
Academic Journal
Rydning, Siri L.; Koht, Jeanette; Sheng, Ying; Sowa, Piotr; Hjorthaug, Hanne S.; Wedding, Iselin M.; Erichsen, Anne Kjersti; Hovden, Inger Anette; Backe, Paul H.; Tallaksen, Chantal M. E.; Vigeland, Magnus D.; Selmer, Kaja K.
Academic Journal
Academic Journal
Journal of Biomolecular Screening; Jan2009, Vol. 14 Issue 1, p92-96, 5p, 3 Charts, 1 Graph
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[AR] Selmer, Kaja K.
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